Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.

doi:10.1038/s41598-024-78788-3

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Article

Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.

Scientific reports - 8 Nov 2024

Rocha Ferreira Juliana, Passarelli Pereira Julia, Arpini Botelho Anna Paula, do Nascimento Aprijo Daniele, Machado Melo Marcelo, Cramer Veiga Rey Helena, Monteiro Dias Glauber

Abstract excerpt

Thoracic aortic diseases (or aortopathies) result from complex interactions between genetic and hemodynamic factors. Often clinically silent, these diseases can lead to lethal complications such as aortic dissection or rupture. This study focused on a Brazilian cohort of 79 individuals with thoracic aortic diseases and explored genetic factors through targeted next-generation sequencing (tNGS) of 15 priority...

Topics

Humans
High-Throughput Nucleotide Sequencing
Fibrillin-1
Brazil
Male
Female
Adult
Middle Aged
Aortic Diseases
Marfan Syndrome
Young Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adolescent

Receptor, Transforming Growth Factor-beta Type II

Cohort Studies

Smad3 Protein

Aged

Child

Genetic Predisposition to Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 39511342
DOI: 10.1038/s41598-024-78788-3
PMCID: PMC11543835

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